adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
ORPHA: 329336
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, sourced from HPO and Orphanet clinical annotations.
Progressive external ophthalmoplegiaExercise intoleranceLimb muscle weaknessHigh palateHearing impairmentDysarthriaBilateral ptosisDysphagiaAreflexia of lower limbsRespiratory insufficiency due to muscle weaknessSkeletal muscle atrophyMyalgiaDifficulty climbing stairsExercise-induced myalgiaFeeding difficultiesFatigable weakness of respiratory musclesWeakness of facial musculatureEsotropiaPigmentary retinopathyCardiomyopathyMigraineGait imbalancePsychomotor deteriorationLimb dysmetriaLoss of ambulationDeficit in phonologic short-term memoryScoliosisAbnormal spinocerebellar tract morphologyNeck flexor weaknessAbnormal atrioventricular conductionSensorimotor neuropathyAbnormal pyramidal sign
Classification & Codes
Orphanet Code
ORPHA:329336adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
| Orphanet | ORPHA:329336 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO